Cognitive functions in children with congenital adrenal hyperplasia

ABSTRACT Objective There is controversy regarding cognitive function in patients with congenital adrenal hyperplasia (CAH). This study is aimed at the assessment of cognitive functions in children with CAH, and their relation to hydrocortisone (HC) therapy and testosterone levels. Subjects and methods Thirty children with CAH due to 21 hydroxylase deficiency were compared with twenty age- and sex-matched healthy controls. HC daily and cumulative doses were calculated, the socioeconomic standard was assessed, and free testosterone was measured. Cognitive function assessment was performed using the Wechsler Intelligence Scale – Revised for Children and Adults (WISC), the Benton Visual Retention Test, and the Wisconsin Card Sorting Test (WCST). Results The mean age (SD) of patients was 10.22 (3.17) years [11 males (36.7%), 19 females (63.3%)]. Mean (SD) HC dose was 15.78 (4.36) mg/m 2 /day. Mean (SD) cumulative HC dose 44,689. 9 (26,892.02) mg. Patients had significantly lower scores in all domains of the WISC test, performed significantly worse in some components of the Benton Visual Retention Test, as well as in the Wisconsin Card Sorting Test. There was no significant difference in cognitive performance when patients were subdivided according to daily HC dose (< 10, 10 – 15, > 15 mg/m 2 /day). A positive correlation existed between cumulative HC dose and worse results of the Benton test. No correlation existed between free testosterone and any of the three tests. Conclusion Patients with CAH are at risk of some cognitive impairment. Hydrocortisone therapy may be implicated. This study highlights the need to assess cognitive functions in CAH.

摘要
目的 先天性肾上腺皮质增生症（congenital adrenal hyperplasia, CAH）患者的认知功能尚存争议。本研究旨在评估先天性肾上腺皮质增生症患儿的认知功能，并探讨其与氢化可的松（hydrocortisone, HC）治疗及睾酮水平的关联。
对象与方法 将30例因21-羟化酶缺陷（21 hydroxylase deficiency）所致先天性肾上腺皮质增生症患儿与20名年龄、性别匹配的健康对照者进行对比。计算氢化可的松每日给药剂量与累积给药剂量，评估社会经济状况，并检测游离睾酮水平。采用韦克斯勒儿童成人智力量表修订版（Wechsler Intelligence Scale – Revised for Children and Adults, WISC）、本顿视觉保持测验（Benton Visual Retention Test）以及威斯康星卡片分类测验（Wisconsin Card Sorting Test, WCST）对认知功能进行评估。
结果 患儿的平均年龄（标准差）为10.22（3.17）岁，其中男性11例（36.7%），女性19例（63.3%）。氢化可的松平均每日给药剂量（标准差）为15.78（4.36）mg/m²/天，平均累积给药剂量（标准差）为44689.9（26892.02）mg。患儿在韦克斯勒智力量表所有维度的得分均显著低于对照组，在本顿视觉保持测验的部分项目以及威斯康星卡片分类测验中的表现均显著更差。按每日氢化可的松给药剂量（<10、10–15、>15 mg/m²/天）对患儿进行亚组划分后，各组间认知表现无显著差异。累积氢化可的松给药剂量与本顿测验的较差结果呈正相关。游离睾酮水平与三项认知测验的任何结果均无相关性。
结论 先天性肾上腺皮质增生症患者存在发生部分认知损害的风险，这可能与氢化可的松治疗相关。本研究强调了对先天性肾上腺皮质增生症患者进行认知功能评估的必要性。